ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375737 SCV002625548 pathogenic Hereditary cancer-predisposing syndrome 2021-09-29 criteria provided, single submitter clinical testing The p.S1341* pathogenic mutation (also known as c.4022C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 4022. This changes the amino acid from a serine to a stop codon within coding exon 10. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics, Fulgent Genetics RCV005008543 SCV005633908 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 2024-02-05 criteria provided, single submitter clinical testing

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